Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001969023 | SCV002248541 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 98 of the CHST14 protein (p.Gly98Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs770839880, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002441123 | SCV002752453 | uncertain significance | Cardiovascular phenotype | 2021-04-16 | criteria provided, single submitter | clinical testing | The p.G98E variant (also known as c.293G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 293. The glycine at codon 98 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |